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dc.contributor.authorHoang, PHen_US
dc.contributor.authorCornish, AJen_US
dc.contributor.authorDobbins, SEen_US
dc.contributor.authorKaiser, Men_US
dc.contributor.authorHoulston, RSen_US
dc.coverage.spatialUnited Statesen_US
dc.date.accessioned2019-09-16T14:48:05Z
dc.date.issued2019-08-06en_US
dc.identifierhttps://www.ncbi.nlm.nih.gov/pubmed/31387987en_US
dc.identifier10.1038/s41408-019-0221-9en_US
dc.identifier.citationBlood Cancer J, 2019, 9 (8), pp. 60 - ?en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3331
dc.identifier.eissn2044-5385en_US
dc.identifier.doi10.1038/s41408-019-0221-9en_US
dc.description.abstractTo gain insight into multiple myeloma (MM) tumorigenesis, we analyzed the mutational signatures in 874 whole-exome and 850 whole-genome data from the CoMMpass Study. We identified that coding and non-coding regions are differentially dominated by distinct single-nucleotide variant (SNV) mutational signatures, as well as five de novo structural rearrangement signatures. Mutational signatures reflective of different principle mutational processes-aging, defective DNA repair, and apolipoprotein B editing complex (APOBEC)/activation-induced deaminase activity-characterize MM. These mutational signatures show evidence of subgroup specificity-APOBEC-attributed signatures associated with MAF translocation t(14;16) and t(14;20) MM; potentially DNA repair deficiency with t(11;14) and t(4;14); and aging with hyperdiploidy. Mutational signatures beyond that associated with APOBEC are independent of established prognostic markers and appear to have relevance to predicting high-risk MM.en_US
dc.format.extent60 - ?en_US
dc.languageengen_US
dc.language.isoengen_US
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_US
dc.titleMutational processes contributing to the development of multiple myeloma.en_US
dc.typeJournal Article
dcterms.dateAccepted2019-05-08en_US
rioxxterms.versionofrecord10.1038/s41408-019-0221-9en_US
rioxxterms.licenseref.startdate2019-08-06en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfBlood Cancer Jen_US
pubs.issue8en_US
pubs.notesNot knownen_US
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Molecular & Population Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular & Population Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Myeloma Group
pubs.publication-statusPublished onlineen_US
pubs.volume9en_US
pubs.embargo.termsNot knownen_US
icr.researchteamMolecular & Population Geneticsen_US
icr.researchteamMyeloma Groupen_US
dc.contributor.icrauthorHoulston, Richarden_US
dc.contributor.icrauthorCornish, Alexanderen_US
dc.contributor.icrauthorKaiser, Martinen_US


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